Linked Data
ClinVar Variation Id:
2963024
ClinVar RCV Id:
RCV003828134
dbSNP Id:
rs1391148253
gnomAD v2:
3-172166046-A-G
gnomAD v4:
3-172448256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448256A>G , CM000665.2:g.172448256A>G | GRCh38 |
| NC_000003.11:g.172166046A>G , CM000665.1:g.172166046A>G | GRCh37 |
| NC_000003.10:g.173648740A>G | NCBI36 |
| NG_021159.1:g.5201T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.158T>C MANE Select | ENSP00000241256.2:p.Leu53Pro | |
| ENST00000241256.2:c.158T>C | ENSP00000241256.2:p.Leu53Pro | |
| ENST00000427970.1:c.158T>C | ENSP00000395344.1:p.Leu53Pro | |
| NM_004122.2:c.158T>C | NP_004113.1:p.Leu53Pro | |
| NM_198407.2:c.158T>C MANE Select | NP_940799.1:p.Leu53Pro |